Hyperferritinaemia-cataract syndrome

Acta Ophthalmologica Scandinavica

Volumn 77, Issue 4, 1999, Pages 478-480

  Lindberg, Knut ^a,b   Hellebostad, Marit ^a  

^a ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

Cataract; Ferritin; Hyperferritinaemia

Indexed keywords

ARTICLE; CASE REPORT; CONGENITAL CATARACT; DIFFERENTIAL DIAGNOSIS; FEMALE; HUMAN; HUMAN CELL; HYPERFERRITINEMIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCANDINAVIA;

EID: 0032767271     PISSN: 13953907     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0420.1999.770428.x     Document Type: Article

References (12)

1. Aiguilar-Martinez P, Biron C, Masmejean C, Jeanjean P, Schved J-F (1996): A Novel Mutation in the Iron Responsive Element of Ferritin L-Subunit Gene. Blood 5: 1895.
2. Beaumont C, Leneuve P, Devaux I, Scoazec J, Berthier M, Loiseau M, Grandchamp B, Bonneau D (1995): Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nature Genet 11: 444-446.
3. Bonneau D, Winter-Fuseau I, Loiseau M, Amati P, Berthier M, Oriot D, Beaumont C (1995): Bilateral Cataract and high serum ferritin. J Med Gen 32: 778-779.
4. Cazzola M, Bergamaschi G, Tonon L, Arbustini E, Grasso M, Vercesi E, Barosi G, Bianchi P, Cairo G, Arosio P (1997): Hereditary Hyperferritinaemia-Cataract Syndrome. Blood 2: 814-821.
5. Congenital Malformations Surveillance Report (1980): July 1978-June 1979. US Dpt of Health and Human Services, Center for Disease Control.
6. Duanes Clinical Ophthalmology (1998): volume 1, Lippincott, Philadelpia.
7. Girelli D, Olivieri O, Franceschi L, Corrocher R, Bergamaschi G, Cazzola M (1995): A linkage between hereditary hyperferritinemia not related to iron overload and autosomal dominmant congenital cataract. Br J Haematol 90: 931-934.
8. Girelli D, Corrocher R, Bisceglia L, Olivieri O, Franceschi L, Zelante L, Gasparini P (1995): Molecular Basis for Recently Described Hereditary Hyperferritinemia-Cataract Syndrome. Blood 11: 4050-4053.
9. Girelli D, Olivieri O, Gasparini P, Corrocher R (1996): Molecular Basis for the Hereditary Hyperferritinemia-Cataract Syndrome. Blood 11: 4912-4913.
10. Martin M, Fargion S, Brissot P, Pellat B, Beaumont C (1998): A Point Mutation in the Bulge of the Iron-Responsive Element of the L Ferritin Gene. Blood 1: 319-323.
11. Mumford A, Vulliamy T, Lindsay J (1998): Hereditary Hyperferritinemia-Cataract Syndrome. Blood 1: 367-368.
12. Taylor D (1997): Pediatric Ophthalmology. Blackwell Science.